tbuckley/cabot-search huggingface dataset:
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature
Authors: Qing Li, Zefu Chen, Jie Wang, Kexin Xu, Xin Fan, Chunxiu Gong, Zhihong Wu, Terry Jianguo Zhang, Nan Wu
Journal: JAMA Pediatrics (2023)

Importance Currently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established. Objective To investigate the diagnostic yield of ES and CMA in short stature. Data Sources A systematic literature search was conducted using relevant keywords in 3 databases (PubMed, Embase, and Web of Science) in February 2023. Study Selection Eligible studies for meta-analysis were those that had at least 10 participants with short stature who were diagnosed using either ES or CMA and the number of diagnosed patients was reported. Of 5222 identified studies, 20 were eventually included in the study. Data Extraction and Synthesis Two independent investigators extracted relevant information from each study, which was then synthesized using proportional meta-analysis to obtain the overall diagnostic yield of ES and CMA. Main Outcomes and Measures The primary outcome measure was to determine the overall diagnostic yield of ES and CMA. A subgroup meta-analysis was also performed to assess if the diagnostic yield varied depending on whether ES was used as a first-tier or last-resort test. Additionally, a meta-regression was carried out to investigate how the diagnostic yield varied over time. Results Twenty studies were included, comprising 1350 patients with short stature who underwent ES and 1070 patients who completed CMA. The overall diagnostic yield of ES among the cohorts and CMA among the cohorts was found to be 27.1% (95% CI, 18.1%-37.2%) and 13.6% (95% CI, 9.2%-18.7%), respectively. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) ( P = .83) or in the percentage of positively diagnosed patients over time. No statistically significant difference was observed between the first-tier (27.8%; 95% CI, 15.7%-41.8%) and last-resort groups (25.6%; 95% CI, 13.6%-39.6%) ( P = .83) or in the percentage of positively diagnosed patients over time. Conclusion and Relevance This systematic review and meta-analysis provides high-level evidence supporting the diagnostic efficacy of ES and CMA in patients with short stature. The findings serve as a solid reference for clinicians when making informed decisions about recommending these genetic tests.
Experiences with Racism Among Asian American Medical Students
Authors: David H. Yang, Marissa Justen, Dana Lee, Heeryoung Kim, Dowin Boatright, Miraj Desai, Gunjan Tiyyagura
Journal: JAMA Network Open (2023)

Importance Asian American physicians have experienced a dual pandemic of racism and COVID-19 since 2020; understanding how racism has affected the learning environment of Asian American medical students is necessary to inform strategies to promoting a more inclusive medical school environment and a diverse and inclusive workforce. While prior research has explored the influence of anti-Asian racism on the experiences of Asian American health care workers, to our knowledge there are no studies investigating how racism has impacted the training experiences of Asian American medical students. Objective To characterize how Asian American medical students have experienced anti-Asian racism in a medical school learning environment. Design, Setting, and Participants This qualitative study included online video interviews of Asian American medical students performed between July 29, 2021, and August 22, 2022. Eligible participants were recruited through the Asian Pacific American Medical Students Association and snowball sampling, and the sample represented a disaggregated population of Asian Americans and all 4 medical school years. Main Outcomes and Measures The medical school experiences of Asian American medical students. Results Among 25 participants, Asian ethnicities included 8 Chinese American (32%), 5 Korean American (20%), 5 Indian American (20%), 3 Vietnamese American (12%), 2 Filipino American (8%), and 1 (4%) each Nepalese, Pakistani, and Desi American; 16 (64%) were female. Participants described 5 major themes concerning their experience with discrimination: (1) invisibility as racial aggression (eg, “It took them the whole first year to be able to tell me apart from the other Asian guy”); (2) visibility and racial aggression (“It transitioned from these series of microaggressions that every Asian person felt to actual aggression”); (3) absence of the Asian American experience in medical school (“They’re not going to mention Asian Americans at all”); (4) ignored while seeking support (“I don’t know what it means to have this part of my identity supported”); and (5) envisioning the future. Conclusions and Relevance In this qualitative study, Asian American medical students reported feeling invisible within medical school while a target of anti-Asian racism. Addressing these unique challenges related to anti-Asian racism is necessary to promote a more inclusive medical school learning environment.
The failure of gene-centrism
Authors: Edward Archer, Carl J. Lavie
Journal: Behavioral and Brain Sciences (2023)

"Challenging the utility of polygenic scores for social science" is a compelling but limited critique. Phenotypic development is sensitive to both initial conditions and all subsequent states - from conception to senescence. Thus, gene-centric analyses are misleading (and often meaningless) because gene products are transformed, and their phenotypic 'effects' combined and attenuated with successive propagations from molecular and cellular contexts to organismal and social environments.
The providential randomisation of genotypes
Authors: Jean-Baptiste Pingault, Pasco Fearon, Essi Viding, Neil Davies, Marcus R. Munafò, George Davey Smith
Journal: Behavioral and Brain Sciences (2023)

Abstract When building causal knowledge in behavioural genetics, the natural randomisation of genotypes at conception (approximately analogous to the artificial randomisation occurring in randomised controlled trials) facilitates the discovery of genetic causes. More importantly, the randomisation of genetic material within families also enables a better identification of (environmental) risk factors and aetiological pathways to diseases and behaviours.
Increasing the use of functional and multimodal genetic data in social science research
Authors: Benjamin C. Nephew, Chris Murgatroyd, Justin J. Polcari, Hudson P. Santos, Angela C. Incollingo Rodriguez
Journal: Behavioral and Brain Sciences (2023)

Abstract Genetic studies in the social sciences could be augmented through the additional consideration of functional (transcriptome, methylome, metabolome) and/or multimodal genetic data when attempting to understand the genetics of social phenomena. Understanding the biological pathways linking genetics and the environment will allow scientists to better evaluate the functional importance of polygenic scores.
Taking a lifespan approach to polygenic scores
Authors: Eloise W. Freitag, Caroline M. Kelsey
Journal: Behavioral and Brain Sciences (2023)

Abstract This commentary is a call to action for researchers to create and use genome-wide association studies (GWASs) with previously missed age groups (e.g., infancy, elderly), which will improve our ability to ask important developmental questions using genetic data to trace pathways across the lifespan.
Video Intervention and Goals-of-Care Documentation in Hospitalized Older Adults
Authors: Angelo E. Volandes, Sophia N. Zupanc, Joshua R. Lakin, Howard J. Cabral, Edith A. Burns, Maria T. Carney, Santiago Lopez, Jennifer Itty, Kaitlin Emmert, Narda J. Martin, Therese Cole, Alexandra Dobie, Traci Cucinotta, Milton Joel, Lisa B. Caruso, Lori Henault, Julianne N. Dugas, Kristina Astone, Michael Winter, Na Wang, Aretha Delight Davis, Cynthia Garde, Perla Macip Rodriguez, Areej El-Jawahri, Edward T. Moseley, Sophiya Das, Kate Sciacca, Ana Maria Ramirez, Valeria Gromova, Sherene Lambert, Shreya Sanghani, Charlotta Lindvall, Michael K. Paasche-Orlow
Journal: JAMA Network Open (2023)

Importance Despite the benefits of goals-of-care (GOC) communication, many hospitalized individuals never communicate their goals or preferences to clinicians. Objective To assess whether a GOC video intervention delivered by palliative care educators (PCEs) increased the rate of GOC documentation. Design, Setting, and Participants This pragmatic, stepped-wedge cluster randomized clinical trial included patients aged 65 years or older admitted to 1 of 14 units at 2 urban hospitals in New York and Boston from July 1, 2021, to October 31, 2022. Intervention The intervention involved PCEs (social workers and nurses trained in GOC communication) facilitating GOC conversations with patients and/or their decision-makers using a library of brief, certified video decision aids available in 29 languages. Patients in the control period received usual care. Main Outcome and Measures The primary outcome was GOC documentation, which included any documentation of a goals conversation, limitation of life-sustaining treatment, palliative care, hospice, or time-limited trials and was obtained by natural language processing. Results A total of 10 802 patients (mean [SD] age, 78 [8] years; 51.6% male) were admitted to 1 of 14 hospital units. Goals-of-care documentation during the intervention phase occurred among 3744 of 6023 patients (62.2%) compared with 2396 of 4779 patients (50.1%) in the usual care phase ( P &amp;amp;lt; .001). Proportions of documented GOC discussions for Black or African American individuals (865 of 1376 [62.9%] vs 596 of 1125 [53.0%]), Hispanic or Latino individuals (311 of 548 [56.8%] vs 218 of 451 [48.3%]), non-English speakers (586 of 1059 [55.3%] vs 405 of 863 [46.9%]), and people living with Alzheimer disease and related dementias (520 of 681 [76.4%] vs 355 of 570 [62.3%]) were greater during the intervention phase compared with the usual care phase. Conclusions and Relevance In this stepped-wedge cluster randomized clinical trial of older adults, a GOC video intervention delivered by PCEs resulted in higher rates of GOC documentation compared with usual care, including among Black or African American individuals, Hispanic or Latino individuals, non-English speakers, and people living with Alzheimer disease and related dementias. The findings suggest that this form of patient-centered care delivery may be a beneficial decision support tool. Trial Registration ClinicalTrials.gov Identifier: NCT04857060
Genetic Influence on Osteoarthritis Versus Other Rheumatic Diseases
Authors: Karin Magnusson, Aleksandra Turkiewicz, Martin Rydén, Martin Englund
Journal: Arthritis & Rheumatology (2023)

We aimed to compare the genetic contribution to osteoarthritis (OA) versus other rheumatic/musculoskeletal diseases (RMDs) in the same population and to explore the role for any shared genetics between OA and other RMDs.
Vertical pleiotropy explains the heritability of social science traits
Authors: Charley Xia, W David Hill
Journal: Behavioral and Brain Sciences (2023)

Abstract We contend that social science variables are the product of multiple partly heritable traits. Genetic associations with socioeconomic status (SES) may differ across populations, but this is a consequence of the intermediary traits associated with SES differences also varying. Furthermore, genetic data allow social scientists to make causal statements regarding the aetiology and consequences of SES.
Two-Year Outcomes After Minimally Invasive Surfactant Therapy in Preterm Infants
Authors: Peter A. Dargaville, C. Omar F. Kamlin, Francesca Orsini, Xiaofang Wang, Antonio G. De Paoli, H. Gozde Kanmaz Kutman, Merih Cetinkaya, Lilijana Kornhauser-Cerar, Matthew Derrick, Hilal Özkan, Christian V. Hulzebos, Georg M. Schmölzer, Ajit Aiyappan, Brigitte Lemyre, Sheree Kuo, Victor S. Rajadurai, Joyce O’Shea, Manoj Biniwale, Rangasamy Ramanathan, Alla Kushnir, David Bader, Mark R. Thomas, Mallinath Chakraborty, Mariam J. Buksh, Risha Bhatia, Carol L. Sullivan, Eric S. Shinwell, Amanda Dyson, David P. Barker, Amir Kugelman, Tim J. Donovan, Kevin C. W. Goss, Markus K. Tauscher, Vadivelam Murthy, Sanoj K. M. Ali, Howard W. Clark, Roger F. Soll, Samantha Johnson, Jeanie L. Y. Cheong, John B. Carlin, Peter G. Davis, Brian A Darlow, Michael Dunn, Amy Salter, Karen Butterley, Nicky Stephens, Lizzy Reid, Ross Dunn, Luke Stephens, Tammy Matzolic, Brenda Argus, Emily Twitchell, Joanna Barrotta, Elizabeth Noble, Kenneth Tan, Emma Yeomans, Melissa Lai, Pieter Koorts, Margaret Broom, Brenda Law, Po-Yin Cheung, Sylvia Van Os, Caroline Fray, Nicole Huneault-Purney, Melissa Faulkner, Chantal Horth, Rebecca Grimwood, A Riskin, Tatiana Kalinina, C Tsafrir, S Afuta, Fanny Timstut, Sabine Huth, Frances McCaffrey, Helmut Hummler, Samir Gupta, Mary Dinan, Miriam Casiraghi, Yip Wai Yan, Krishna R Gopagondanahalli, Suresh Chandran, Rowena Dela Puerta, Miha Lučovnik, Vlasta L Kurtovič, Annelies J Olthuis, Dyvonne H Baptist, Helene A Bouma, Mehmet Büyüktiryaki, Suzan Sahin, Burcu Cebeci, Sule Ozdemir, Aylin Vantansever, Lorna McKay, Therese McSorley, Philippa Crowley, Jenny Pond, Christie Mellish, Rachel M Hayward, Ian P Morris, Sian Elliot, Deena-Shefali Patel, Izabela Andrzejewska, Amanda Cook, Sue Wolf, Micah Tong, Rosanna Ericksen, Amanda Logan, Patricia Niblack, Zenaida R Tauscher, Pamela Whitlow
Journal: JAMA (2023)

The long-term effects of surfactant administration via a thin catheter (minimally invasive surfactant therapy [MIST]) in preterm infants with respiratory distress syndrome remain to be definitively clarified.
Gefapixant for Refractory or Unexplained Chronic Cough?
Authors: Richard S. Irwin, J. Mark Madison
Journal: JAMA (2023)

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Don't miss the chance to reap the fruits of recent advances in behavioral genetics
Authors: Nina Alexander, Sabrina Illius, Dennis Feyerabend, Jan Wacker, Ulf Liszkowski
Journal: Behavioral and Brain Sciences (2023)

Abstract In her target article, Burt revives a by now ancient debate on nature and nurture, and the ways to measure, disentangle, and ultimately trust one or the other of these forces. Unfortunately, she largely dismisses recent advances in behavior genetics and its huge potential in contributing to a better prediction and understanding of complex traits in social sciences.
Error in Abstract
Authors: Lauren Gerlach, Jonathan Martindale, Julie Bynum, Matthew Davis
Journal: JAMA Neurology (2023)

given the increased mortality risk associated with antipsychotic agents and potential for transition to long-term use. 5Among our study's limitations, there may be misclassification of patients with ADRD who are not identified from NHAMCS medical record review.Although the ED is an important care location for an increasing number of patients with ADRDs, our findings highlight the need for better ways to evaluate and manage ADRD care in outpatient settings to reduce potentially avoidable and harmful visits.
Burt uses a fallacious motte-and-bailey argument to dispute the value of genetics for social science
Authors: Brendan P. Zietsch, Abdel Abdellaoui, Karin J. H. Verweij
Journal: Behavioral and Brain Sciences (2023)

Abstract Burt's argument relies on a motte-and-bailey fallacy. Burt aims to argue against the value of genetics for social science; instead she argues against certain interpretations of a specific kind of genetics tool, polygenic scores (PGSs). The limitations, previously identified by behavioural geneticists including ourselves, do not negate the value of PGSs, let alone genetics in general, for social science.
Polygenic scores ignore development and epigenetics, dramatically reducing their value
Authors: David S. Moore
Journal: Behavioral and Brain Sciences (2023)

Abstract Polygenic scores cannot elucidate the mechanisms that produce behavioral phenotypes (including “intelligence”). Therefore, they are unlikely to yield helpful interventions. Moreover, they are poor predictors of individuals' developmental outcomes. Burt's critique is well-supported by the details of molecular biology. Specifically, experiences affect epigenetic factors that influence phenotypes via how the genome functions, a fact that lends support to Burt's conclusions.
<i>KRAS</i> Wild-Type Pancreatic Cancer: Decoding Genomics, Unlocking Therapeutic Potential
Authors: Hiroyuki Kato, Haley Ellis, Nabeel Bardeesy
Journal: Clinical Cancer Research (2023)

Summary In a landscape dominated by pivotal KRAS mutations, there has been limited exploration of KRAS wild-type pancreatic cancer. A recent study highlights other mitogen-activated kinase pathway alterations as alternative drivers in these tumors, which holds the key to unlocking a realm of targeted therapies for patients with this understudied cancer subtype. See related article by Singh et al., p. 4627
Trastuzumab Deruxtecan in Patients With <i>HER2</i>-Mutant Metastatic Non–Small-Cell Lung Cancer: Primary Results From the Randomized, Phase II DESTINY-Lung02 Trial
Authors: Koichi Goto, Yasushi Goto, Toshio Kubo, Kiichiro Ninomiya, Sang-We Kim, David Planchard, Myung-Ju Ahn, Egbert F. Smit, Adrianus Johannes de Langen, Maurice Pérol, Elvire Pons-Tostivint, Silvia Novello, Hidetoshi Hayashi, Junichi Shimizu, Dong-Wan Kim, Chih-Hsi Kuo, James Chih-Hsin Yang, Kaline Pereira, Fu-Chih Cheng, Ayumi Taguchi, Yingkai Cheng, Wenqin Feng, Zenta Tsuchihashi, Pasi A. Jänne
Journal: Journal of Clinical Oncology (2023)

Trastuzumab deruxtecan (T-DXd) 5.4 and 6.4 mg/kg showed robust antitumor activity in multiple cancer indications; however, T-DXd 5.4 mg/kg has not been evaluated in patients with previously treated human epidermal growth factor receptor 2-mutant (
Benefits of hereditarian insights for mate choice and parenting
Authors: Geoffrey F. Miller
Journal: Behavioral and Brain Sciences (2023)

Abstract Madole &amp; Harden develop some good ideas about how to understand genetic causality more clearly, but they frame the benefits of behavior genetics research at a largely collective level, focused on the pros and cons of different ways to engineer the gene pool or social behavior. This neglects the individual benefits of hereditarian insights for mate choice and parenting.
Genes, genomes, and developmental process
Authors: Jebediah Taylor, Staci Meredith Weiss, Peter J. Marshall
Journal: Behavioral and Brain Sciences (2023)

Abstract The view advanced by Madole &amp; Harden falls back on the dogma of a gene as a DNA sequence that codes for a fixed product with an invariant function regardless of temporal and spatial contexts. This outdated perspective entrenches the metaphor of genes as static units of information and glosses over developmental complexities.
Chatbot-Delivered Online Intervention to Promote Seasonal Influenza Vaccination During the COVID-19 Pandemic
Authors: Zixin Wang, Paul Shing-fong Chan, Yuan Fang, Fuk-yuen Yu, Danhua Ye, Qingpeng Zhang, Martin C. S. Wong, Phoenix K. H. Mo
Journal: JAMA Network Open (2023)

Receiving seasonal influenza vaccination (SIV) is important for adults during the COVID-19 pandemic. There are few robust evaluations of tailored interventions for improving SIV uptake among adults 65 years or older.To evaluate the relative efficacy of a stages of change (SOC)-tailored online intervention compared with a standard, non-SOC-tailored online intervention in increasing SIV uptake among Hong Kong residents 65 years or older.This nonblinded parallel-group randomized clinical trial was conducted between December 1, 2021, and July 31, 2022, in Hong Kong, China. Eligible participants were 65 years or older, had Cantonese- and/or Mandarin-speaking skills, were community-dwelling, had Hong Kong residency, were smartphone users, and had not received SIV for the 2021 to 2022 influenza season. Participants were recruited through random telephone calls, and those who completed the baseline telephone survey were randomized to either the intervention or control group. Both complete case and intention-to-treat (ITT) analyses were performed.In the intervention group, a simplified rule-based chatbot first assessed participants' SOC related to SIV uptake and then automatically selected and sent participants SOC-tailored online health promotion messages (videos) through a messaging application (WhatsApp; Meta) once every 2 weeks for 4 sessions. In the control group, the chatbot sent a link to access through the messaging application a standard online health promotion message (video) covering general SIV information every 2 weeks for 4 sessions.The primary outcome was self-reported SIV uptake at month 6, which was validated by the research team. The secondary outcome was SOC measured at both baseline and month 6 by validated questions.A total of 396 participants (mean [SD] age of 70.2 [4.3] years; 249 females [62.9%]) were randomized to the intervention (n = 198) or control (n = 198) group. The ITT analysis showed that the validated SIV uptake rate was higher in the intervention group than the control group at month 6 (50.5% vs 35.3%; P = .002). The mean (SD) SOC score was higher in the intervention group than the control group (2.8 [1.4] vs 2.4 [1.4]; P = .02). More participants in the intervention group completed at least 1 episode of intervention than in the control group (77.3% vs 62.6%; P < .001).Results of this trial indicate that the SOC-tailored online intervention was more effective than the non-SOC-tailored intervention and may be a sustainable new method in increasing SIV uptake among adults 65 years or older.ClinicalTrials.gov Identifier: NCT05155241.
Polygenic risk scores cannot make their mark on psychiatry without considering epigenetics
Authors: Diane C. Gooding, Anthony P. Auger
Journal: Behavioral and Brain Sciences (2023)

Abstract We generally agree with Burt's thesis. However, we note that the author did not discuss epigenetics, the study of how the environment can alter gene structure and function. Given epigenetic mechanisms, the utility of polygenic risk scores (PRS) is limited in studies of development and mental illness. Finally, in this commentary we expand upon the risks of reliance upon PRSs.